PIGC
geneOn this page
Also known as PIG-CGPI2
Summary
PIGC (phosphatidylinositol glycan anchor biosynthesis class C, HGNC:8960) is a protein-coding gene on chromosome 1q24.3, encoding Phosphatidylinositol N-acetylglucosaminyltransferase subunit C (Q92535). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized.
Source: NCBI Gene 5279 — RefSeq curated summary.
At a glance
- Gene–disease (curated): glycosylphosphatidylinositol biosynthesis defect 16 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 80
- Clinical variants (ClinVar): 6 total
- Phenotypes (HPO): 8
- MANE Select transcript:
NM_153747
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8960 |
| Approved symbol | PIGC |
| Name | phosphatidylinositol glycan anchor biosynthesis class C |
| Location | 1q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PIG-C, GPI2 |
| Ensembl gene | ENSG00000135845 |
| Ensembl biotype | protein_coding |
| OMIM | 601730 |
| Entrez | 5279 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000344529, ENST00000367728, ENST00000465374, ENST00000475059, ENST00000478184, ENST00000484368, ENST00000489002, ENST00000862975, ENST00000862976, ENST00000862977, ENST00000862978, ENST00000934579, ENST00000934580, ENST00000952346, ENST00000952347
RefSeq mRNA: 2 — MANE Select: NM_153747
NM_002642, NM_153747
CCDS: CCDS1302
Canonical transcript exons
ENST00000344529 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379751 | 172441457 | 172442830 |
| ENSE00001909799 | 172443988 | 172444069 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 92.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1234 / max 107.3570, expressed in 1799 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15914 | 10.0091 | 1780 |
| 15915 | 3.8476 | 1632 |
| 15913 | 0.2667 | 82 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 92.99 | gold quality |
| skin of leg | UBERON:0001511 | 92.82 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.47 | gold quality |
| zone of skin | UBERON:0000014 | 92.13 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.12 | gold quality |
| monocyte | CL:0000576 | 91.33 | gold quality |
| leukocyte | CL:0000738 | 91.18 | gold quality |
| upper leg skin | UBERON:0004262 | 91.16 | gold quality |
| mononuclear cell | CL:0000842 | 91.15 | gold quality |
| body of pancreas | UBERON:0001150 | 90.53 | gold quality |
| nipple | UBERON:0002030 | 90.53 | gold quality |
| bone marrow | UBERON:0002371 | 90.51 | gold quality |
| pancreas | UBERON:0001264 | 90.33 | gold quality |
| hair follicle | UBERON:0002073 | 90.13 | gold quality |
| body of uterus | UBERON:0009853 | 90.02 | gold quality |
| right ovary | UBERON:0002118 | 89.92 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.91 | gold quality |
| gall bladder | UBERON:0002110 | 89.90 | gold quality |
| left ovary | UBERON:0002119 | 89.90 | gold quality |
| penis | UBERON:0000989 | 89.88 | gold quality |
| upper arm skin | UBERON:0004263 | 89.76 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.69 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.66 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.61 | gold quality |
| granulocyte | CL:0000094 | 89.32 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.32 | gold quality |
| rectum | UBERON:0001052 | 89.29 | gold quality |
| ovary | UBERON:0000992 | 89.24 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.24 | gold quality |
| blood | UBERON:0000178 | 89.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9467 | no | 1.79 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting PIGC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-5007-3P | 99.51 | 68.14 | 1242 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
Literature-anchored findings (GeneRIF, showing 2)
- Genes within recently identified loci associated with waist-hip ratio (WHR) exhibit fat depot-specific mRNA expression, which correlates with obesity-related traits. Adipose tissue (AT) mRNA expression of 6 genes (TBX15/WARS2, STAB1, PIGC, ZNRF3, GRB14 (PMID:23670221)
- PIGC joins the list of genes in which mutations result in defective biosynthesis of GPI anchoring, manifesting by global developmental delay and seizure disorder. (PMID:27694521)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pigc | ENSDARG00000009113 |
| mus_musculus | Pigc | ENSMUSG00000026698 |
| rattus_norvegicus | Pigc | ENSRNOG00000026497 |
| drosophila_melanogaster | PIG-C | FBGN0035435 |
| caenorhabditis_elegans | WBGENE00011860 |
Protein
Protein identifiers
Phosphatidylinositol N-acetylglucosaminyltransferase subunit C — Q92535 (reviewed: Q92535)
Alternative names: Phosphatidylinositol-glycan biosynthesis class C protein
All UniProt accessions (1): Q92535
UniProt curated annotations — full annotation on UniProt →
Function. Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
Subunit / interactions. Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2. Interacts with PIGQ. Interacts with the heterodimer PIGA:PIGH.
Subcellular location. Endoplasmic reticulum membrane.
Disease relevance. Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816] An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. The disease is caused by variants affecting the gene represented in this entry.
Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Similarity. Belongs to the PIGC family.
RefSeq proteins (2): NP_002633, NP_714969* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009450 | Plno_GlcNAc_GPI2 | Family |
Pfam: PF06432
UniProt features (13 total): transmembrane region 8, sequence variant 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92535-F1 | 88.98 | 0.63 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-162710 | Synthesis of glycosylphosphatidylinositol (GPI) |
MSigDB gene sets: 158 (showing top):
MORF_MTA1, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MODULE_16, MORF_PSMC2, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS
GO Biological Process (1): GPI anchor biosynthetic process (GO:0006506)
GO Molecular Function (2): catalytic activity (GO:0003824), protein binding (GO:0005515)
GO Cellular Component (4): glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational modification: synthesis of GPI-anchored proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GPI anchor metabolic process | 1 |
| glycolipid biosynthetic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| GPI anchored protein biosynthesis | 1 |
| molecular_function | 1 |
| binding | 1 |
| endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
| transferase complex | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PIGC | PIGQ | Q9BRB3 | 999 |
| PIGC | PIGH | Q14442 | 999 |
| PIGC | PIGA | P37287 | 999 |
| PIGC | PIGP | P57054 | 999 |
| PIGC | PIGY | Q3MUY2 | 999 |
| PIGC | DPM2 | O94777 | 996 |
| PIGC | PYURF | Q96I23 | 840 |
| PIGC | ERI1 | Q8IV48 | 830 |
| PIGC | PIGB | Q92521 | 814 |
| PIGC | PIGL | Q9Y2B2 | 811 |
| PIGC | PIGG | Q5H8A4 | 811 |
| PIGC | PIGW | Q7Z7B1 | 807 |
| PIGC | PIGM | Q9H3S5 | 795 |
| PIGC | PIGO | Q8TEQ8 | 774 |
| PIGC | PIGK | Q92643 | 774 |
| PIGC | PIGV | Q9NUD9 | 774 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIGA | PIGP | psi-mi:“MI:0914”(association) | 0.710 |
| PIGA | DPM2 | psi-mi:“MI:0914”(association) | 0.660 |
| DPM2 | PIGA | psi-mi:“MI:0914”(association) | 0.660 |
| PIGC | PIGA | psi-mi:“MI:0914”(association) | 0.640 |
| PIGC | PIGQ | psi-mi:“MI:0915”(physical association) | 0.500 |
| PIGC | DPM2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| KLF10 | PIGC | psi-mi:“MI:0915”(physical association) | 0.370 |
| PIGC | PIGH | psi-mi:“MI:0914”(association) | 0.350 |
| SLC4A8 | PSMA7 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGC | ZHX1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): ZHX1 (Two-hybrid), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Proximity Label-MS), PIGC (Negative Genetic), PIGC (Affinity Capture-Western), PIGC (Reconstituted Complex), PIGC (Proximity Label-MS), PIGC (Cross-Linking-MS (XL-MS)), PIGC (Affinity Capture-MS), PIGC (Affinity Capture-RNA)
ESM2 similar proteins: A1CKG4, A1D708, A2XSY1, A4R2N5, A6QRX6, A6RRF7, A7EMV1, B0XXU1, B2AR67, O46521, O95214, O95807, P13498, P52650, Q0CNZ5, Q0JDK9, Q0V0G4, Q17QF8, Q1E1E0, Q28F21, Q2GSS4, Q32PD8, Q39080, Q3ZBX1, Q4WXT2, Q566G2, Q5PQQ4, Q5R5Z8, Q5RDE9, Q61462, Q62737, Q6CC06, Q6GM42, Q6GPA8, Q6P0C7, Q6PDU4, Q7S693, Q8K3C0, Q8TAC9, Q92535
Diamond homologs: O59802, O64761, Q3ZBX1, Q54M40, Q5PQQ4, Q92535, Q9CXR4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
985 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:172379014:TTAG:T | acceptor_loss | 1.0000 |
| 1:172379015:TAGGC:T | acceptor_loss | 1.0000 |
| 1:172379016:A:AG | acceptor_gain | 1.0000 |
| 1:172379016:AG:A | acceptor_gain | 1.0000 |
| 1:172379016:AGG:A | acceptor_loss | 1.0000 |
| 1:172379016:AGGCT:A | acceptor_gain | 1.0000 |
| 1:172379017:G:A | acceptor_gain | 1.0000 |
| 1:172379017:G:GT | acceptor_gain | 1.0000 |
| 1:172379017:GGC:G | acceptor_gain | 1.0000 |
| 1:172379017:GGCT:G | acceptor_gain | 1.0000 |
| 1:172379017:GGCTG:G | acceptor_gain | 1.0000 |
| 1:172379178:ATAAC:A | donor_gain | 1.0000 |
| 1:172379181:AC:A | donor_gain | 1.0000 |
| 1:172379183:G:GG | donor_gain | 1.0000 |
| 1:172387119:T:TA | acceptor_gain | 1.0000 |
| 1:172387356:GCAG:G | donor_gain | 1.0000 |
| 1:172387359:GGT:G | donor_loss | 1.0000 |
| 1:172387360:G:GG | donor_gain | 1.0000 |
| 1:172387360:GTA:G | donor_loss | 1.0000 |
| 1:172388569:TCA:T | acceptor_loss | 1.0000 |
| 1:172388571:A:C | acceptor_loss | 1.0000 |
| 1:172379179:TAAC:T | donor_gain | 0.9900 |
| 1:172379180:AAC:A | donor_gain | 0.9900 |
| 1:172379180:AACG:A | donor_loss | 0.9900 |
| 1:172379181:ACGTA:A | donor_loss | 0.9900 |
| 1:172379182:CGTAA:C | donor_loss | 0.9900 |
| 1:172379183:G:A | donor_loss | 0.9900 |
| 1:172379184:TAA:T | donor_loss | 0.9900 |
| 1:172379185:A:AA | donor_loss | 0.9900 |
| 1:172379186:A:AA | donor_loss | 0.9900 |
AlphaMissense
1921 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:172441774:C:A | W283C | 0.997 |
| 1:172441774:C:G | W283C | 0.997 |
| 1:172441776:A:G | W283R | 0.996 |
| 1:172441776:A:T | W283R | 0.996 |
| 1:172442524:G:C | F33L | 0.996 |
| 1:172442524:G:T | F33L | 0.996 |
| 1:172442526:A:G | F33L | 0.996 |
| 1:172441795:T:A | K276N | 0.994 |
| 1:172441795:T:G | K276N | 0.994 |
| 1:172441796:T:A | K276I | 0.989 |
| 1:172441781:C:T | G281E | 0.988 |
| 1:172442525:A:G | F33S | 0.987 |
| 1:172441993:A:C | F210L | 0.986 |
| 1:172441993:A:T | F210L | 0.986 |
| 1:172441995:A:G | F210L | 0.986 |
| 1:172442188:G:C | S145R | 0.986 |
| 1:172442188:G:T | S145R | 0.986 |
| 1:172442190:T:G | S145R | 0.986 |
| 1:172442525:A:C | F33C | 0.985 |
| 1:172442061:A:G | C188R | 0.984 |
| 1:172441775:C:G | W283S | 0.980 |
| 1:172441773:C:G | D284H | 0.978 |
| 1:172441782:C:G | G281R | 0.978 |
| 1:172441782:C:T | G281R | 0.978 |
| 1:172441775:C:A | W283L | 0.977 |
| 1:172441760:A:G | I288T | 0.975 |
| 1:172441830:A:G | C265R | 0.974 |
| 1:172442023:G:C | F200L | 0.974 |
| 1:172442023:G:T | F200L | 0.974 |
| 1:172442025:A:G | F200L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1002071156 (1:172441413 C>G,T), RS1002495123 (1:172442604 T>A,C), RS1002618194 (1:172440991 T>C), RS1004016126 (1:172445649 G>A), RS1004172250 (1:172444820 C>T), RS1005469820 (1:172440965 C>T), RS1005560529 (1:172441687 T>G), RS1005940619 (1:172441402 T>C), RS1006310195 (1:172443433 T>A), RS1007693796 (1:172443508 C>G), RS1008734515 (1:172444923 G>C), RS1009119503 (1:172444530 A>C,G), RS1011604749 (1:172443754 T>C), RS1011827201 (1:172444160 G>A,C), RS1012919419 (1:172444436 T>C)
Disease associations
OMIM: gene MIM:601730 | disease phenotypes: MIM:617816
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| glycosylphosphatidylinositol biosynthesis defect 16 | Strong | Autosomal recessive |
| autosomal recessive non-syndromic intellectual disability | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| glycosylphosphatidylinositol biosynthesis defect 16 | Limited | AR |
Mondo (2): glycosylphosphatidylinositol biosynthesis defect 16 (MONDO:0040500), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)
Orphanet (0):
HPO phenotypes
8 total (8 of 8 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0002465 | Poor speech |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| HP:0031936 | Delayed ability to walk |
GWAS associations
80 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000829_1 | Waist-hip ratio | 1.000000e-17 |
| GCST002782_155 | Waist-to-hip ratio adjusted for body mass index | 2.000000e-10 |
| GCST002782_156 | Waist-to-hip ratio adjusted for body mass index | 9.000000e-07 |
| GCST002782_157 | Waist-to-hip ratio adjusted for body mass index | 4.000000e-15 |
| GCST002782_158 | Waist-to-hip ratio adjusted for body mass index | 3.000000e-07 |
| GCST002782_159 | Waist-to-hip ratio adjusted for body mass index | 9.000000e-11 |
| GCST002782_160 | Waist-to-hip ratio adjusted for body mass index | 1.000000e-15 |
| GCST003518_51 | Daytime sleep phenotypes | 3.000000e-06 |
| GCST004064_61 | Waist-hip ratio | 7.000000e-08 |
| GCST004064_70 | Waist-hip ratio | 1.000000e-08 |
| GCST004505_35 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 1.000000e-11 |
| GCST004505_36 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 9.000000e-15 |
| GCST004507_22 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 7.000000e-06 |
| GCST004507_7 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 9.000000e-06 |
| GCST004567_114 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 6.000000e-16 |
| GCST004567_135 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 1.000000e-14 |
| GCST004567_36 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 5.000000e-13 |
| GCST004567_55 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 3.000000e-13 |
| GCST004576_54 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-16 |
| GCST004576_55 | Waist-to-hip ratio adjusted for body mass index | 6.000000e-14 |
| GCST004576_56 | Waist-to-hip ratio adjusted for body mass index | 3.000000e-14 |
| GCST004576_57 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-16 |
| GCST004578_103 | Waist-to-hip ratio adjusted for BMI in active individuals | 4.000000e-12 |
| GCST004578_11 | Waist-to-hip ratio adjusted for BMI in active individuals | 3.000000e-12 |
| GCST004578_112 | Waist-to-hip ratio adjusted for BMI in active individuals | 5.000000e-13 |
| GCST004578_67 | Waist-to-hip ratio adjusted for BMI in active individuals | 8.000000e-14 |
| GCST004578_86 | Waist-to-hip ratio adjusted for BMI in active individuals | 4.000000e-12 |
| GCST010083_37 | Hemoglobin levels | 3.000000e-08 |
| GCST012227_1164 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST012227_1165 | Hip circumference adjusted for BMI | 6.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004343 | waist-hip ratio |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007828 | daytime rest measurement |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0004305 | erythrocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects expression, decreases expression | 3 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: glycosylphosphatidylinositol biosynthesis defect 16, autosomal recessive non-syndromic intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive non-syndromic intellectual disability, glycosylphosphatidylinositol biosynthesis defect 16